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https://www.readbyqxmd.com/read/28534376/vhl-tgfbi-signaling-is-involved-in-the-synergy-between-5-aza-2-deoxycytidine-and-paclitaxel-against-human-renal-cell-carcinoma
#1
Donghao Shang, Shaozhong Xian, Tiandong Han, Xuanhao Li, Yuting Liu
PURPOSE: To analyse the role of von Hippel-Lindau (VHL) and transforming growth factor β-induced (TGFBI) in synergistic mechanisms of 5-aza-2'-deoxycytidine (DAC) and paclitaxel (PTX) against renal cell carcinoma (RCC). METHODS: To elucidate the role in the synergy between DAC and PTX against RCC cells, TGFBI expression was regulated using siRNA technology and an expression vector containing the full-length cDNA for TGFBI was also transfected into RCC cells. The proliferation of RCC cells was evaluated using the WST-1 assay and TGFBI expression was detected by real-time PCR (RT-PCR), and Western blot...
March 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/28534272/braf-mutation-is-associated-with-an-improved-survival-in-glioma-a-systematic-review-and-meta-analysis
#2
REVIEW
Huy Gia Vuong, Ahmed M A Altibi, Uyen N P Duong, Hanh T T Ngo, Thong Quang Pham, Kar-Ming Fung, Lewis Hassell
Newly emerged molecular markers in gliomas provide prognostic values beyond the capabilities of histologic classification. BRAF mutation, especially BRAF V600E, is common in a subset of gliomas and may represent a potential prognostic marker. The aim of our study is to investigate the potential use of BRAF mutations on prognosis of glioma patients. Four electronic databases were searched for potential articles, including PubMed, Scopus, ISI Web of Science, and Virtual Health Library (VHL). Data of hazard ratio (HR) for overall survival (OS) and progression-free survival (PFS) were directly obtained from original papers or indirectly estimated from Kaplan Meier curve (KMC)...
May 22, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28533271/vhl-inactivation-in-precancerous-kidney-cells-induces-an-inflammatory-response-via-er-stress-activated-ire1%C3%AE-signaling
#3
Chan-Yen Kuo, Chih-Hung Lin, Tien Hsu
Mutations and epigenetic inactivation of the tumor suppressor gene von Hippel-Lindau (VHL) are major causes of clear-cell renal cell carcinoma (ccRCC) that may originate from chronic inflammation. However, the role of VHL loss-of-function in the development of ccRCC via inflammation remains poorly understood. VHL mutant cells exhibit metabolic abnormalities that can cause chronic endoplasmic reticulum (ER) stress and unfolded protein response (UPR). We hypothesize that unresolved ER stress induces the inflammatory responses observed in ccRCC...
May 22, 2017: Cancer Research
https://www.readbyqxmd.com/read/28528867/a-pan-cancer-proteogenomic-atlas-of-pi3k-akt-mtor-pathway-alterations
#4
Yiqun Zhang, Patrick Kwok-Shing Ng, Melanie Kucherlapati, Fengju Chen, Yuexin Liu, Yiu Huen Tsang, Guillermo de Velasco, Kang Jin Jeong, Rehan Akbani, Angela Hadjipanayis, Angeliki Pantazi, Christopher A Bristow, Eunjung Lee, Harshad S Mahadeshwar, Jiabin Tang, Jianhua Zhang, Lixing Yang, Sahil Seth, Semin Lee, Xiaojia Ren, Xingzhi Song, Huandong Sun, Jonathan Seidman, Lovelace J Luquette, Ruibin Xi, Lynda Chin, Alexei Protopopov, Thomas F Westbrook, Carl Simon Shelley, Toni K Choueiri, Michael Ittmann, Carter Van Waes, John N Weinstein, Han Liang, Elizabeth P Henske, Andrew K Godwin, Peter J Park, Raju Kucherlapati, Kenneth L Scott, Gordon B Mills, David J Kwiatkowski, Chad J Creighton
Molecular alterations involving the PI3K/AKT/mTOR pathway (including mutation, copy number, protein, or RNA) were examined across 11,219 human cancers representing 32 major types. Within specific mutated genes, frequency, mutation hotspot residues, in silico predictions, and functional assays were all informative in distinguishing the subset of genetic variants more likely to have functional relevance. Multiple oncogenic pathways including PI3K/AKT/mTOR converged on similar sets of downstream transcriptional targets...
May 8, 2017: Cancer Cell
https://www.readbyqxmd.com/read/28527294/activation-of-hypoxia-signaling-in-stromal-progenitors-impairs-kidney-development
#5
Katharina Gerl, Dominik Steppan, Michaela Fuchs, Charlotte Wagner, Carsten Willam, Armin Kurtz, Birgül Kurt
Intrauterine hypoxia is a reason for impaired kidney development. The cellular and molecular pathways along which hypoxia exerts effects on nephrogenesis are not well understood. They are likely triggered by hypoxia-inducible transcription factors (HIFs), and their effects appear to be dependent on the cell compartment contributing to kidney formation. In this study, we investigated the effects of HIF activation in the developing renal stroma, which also essentially modulates nephron development from the metanephric mesenchyme...
May 17, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28526081/comprehensive-detection-of-germline-variants-by-msk-impact-a-clinical-diagnostic-platform-for-solid-tumor-molecular-oncology-and-concurrent-cancer-predisposition-testing
#6
Donavan T Cheng, Meera Prasad, Yvonne Chekaluk, Ryma Benayed, Justyna Sadowska, Ahmet Zehir, Aijazuddin Syed, Yan Elsa Wang, Joshua Somar, Yirong Li, Zarina Yelskaya, Donna Wong, Mark E Robson, Kenneth Offit, Michael F Berger, Khedoudja Nafa, Marc Ladanyi, Liying Zhang
BACKGROUND: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families. METHODS: Here, we evaluated the performance of MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) in detecting genetic alterations in 76 genes implicated in cancer predisposition syndromes...
May 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28515932/single-stage-laparoscopic-adrenalectomy-for-pheochromocytoma-and-enucleation-of-a-pancreatic-neuroendocrine-tumor-in-von-hippel-lindau-disease-a-case-report
#7
Marco Casaccia, Simona Macina, Rosario Fornaro
Von Hippel-Lindau (VHL) disease is an inherited syndrome with autosomal-dominant transmission, characterized by central nervous system and retinal hemangioblastomas, visceral cysts and tumors. Optimal surgical treatment, including its timing, remains a controversial topic. The present study reports the case of a 67-year-old female patient with adrenal and pancreatic manifestations of VHL. A laparoscopic cortex-sparing left adrenalectomy for a 4-cm pheochromocytoma and pancreatic enucleation for pancreatic polypeptidoma of the pancreas tail were performed during the same operative procedure...
May 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28515046/kif1b-and-nf1-are-the-most-frequently-mutated-genes-in-paraganglioma-tumors
#8
Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, Alexandre Persu
Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility genes. Furthermore, somatic mutations were identified in an additional 30% of PPGL, mostly in NF1, RET, VHL, MAX, and HRAS. However, screening is limited to a few studies mainly using Sanger sequencing (Burnichon, et al. 2012; Burnichon, et al. 2011; Crona, et al. 2013; Luchetti, et al...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28503272/von-hippel-lindau-disease
#9
Sna Muhamad Nor, J Haron
Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
2017: Malaysian Family Physician
https://www.readbyqxmd.com/read/28503092/management-of-gene-variants-of-unknown-significance-analysis-method-and-risk-assessment-of-the-vhl-mutation-p-p81s-c-241c-t
#10
REVIEW
Daniela Alosi, Marie Luise Bisgaard, Sophie Nowak Hemmingsen, Lotte Nylandsted Krogh, Hanne Birte Mikkelsen, Marie Louise Mølgaard Binderup
BACKGROUND: Evaluation of the pathogenicity of a gene variant of unknown significance (VUS) is crucial for molecular diagnosis and genetic counseling, but can be challenging. This is especially so in phenotypically variable diseases, such as von Hippel-Lindau disease (vHL). vHL is caused by germline mutations in the VHL gene, which predispose to the development of multiple tumors such as central nervous system hemangioblastomas and renal cell carcinoma (RCC). OBJECTIVE: We propose a method for the evaluation of VUS pathogenicity through our experience with the VHL missense mutation c...
February 2017: Current Genomics
https://www.readbyqxmd.com/read/28499761/cystadenoma-of-the-rete-testis-in-a-patient-with-von-hippel-lindau-disease
#11
Jacob Lewis, David Thiel, Gregory Broderick, Candice Bolan
Von-Hippel Lindau (VHL) disease is a rare, inherited multicystic disorder that is characterized by several benign and malignant neoplasms (1). Classically, the disease manifests itself in a broad spectrum including: renal cell carcinomas, intracranial and spinal hemangioblastomas, endolymphatic sac tumors, renal and pancreatic cysts, and pheochromocytomas. Another important, but commonly forgotten manifestation is the cystadenoma of the rete testis.
May 9, 2017: Urology
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#12
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28492066/progression-inference-for-somatic-mutations-in-cancer
#13
Leif E Peterson, Tatiana Kovyrshina
Computational methods were employed to determine progression inference of genomic alterations in commonly occurring cancers. Using cross-sectional TCGA data, we computed evolutionary trajectories involving selectivity relationships among pairs of gene-specific genomic alterations such as somatic mutations, deletions, amplifications, downregulation, and upregulation among the top 20 driver genes associated with each cancer. Results indicate that the majority of hierarchies involved TP53, PIK3CA, ERBB2, APC, KRAS, EGFR, IDH1, VHL, etc...
April 2017: Heliyon
https://www.readbyqxmd.com/read/28490657/targeting-endogenous-proteins-for-degradation-through-the-affinity-directed-protein-missile-system
#14
Luke J Fulcher, Luke D Hutchinson, Thomas J Macartney, Craig Turnbull, Gopal P Sapkota
Targeted proteolysis of endogenous proteins is desirable as a research toolkit and in therapeutics. CRISPR/Cas9-mediated gene knockouts are irreversible and often not feasible for many genes. Similarly, RNA interference approaches necessitate prolonged treatments, can lead to incomplete knockdowns and are often associated with off-target effects. Targeted proteolysis can overcome these limitations. In this report, we describe an affinity-directed protein missile (AdPROM) system that harbours the von Hippel-Lindau (VHL) protein, the substrate receptor of the Cullin2 (CUL2) E3 ligase complex, tethered to polypeptide binders that selectively bind and recruit endogenous target proteins to the CUL2-E3 ligase complex for ubiquitination and proteasomal degradation...
May 2017: Open Biology
https://www.readbyqxmd.com/read/28488172/clear-cell-renal-cell-carcinoma-a-comparative-study-of-histological-and-chromosomal-characteristics-between-primary-tumors-and-their-corresponding-metastases
#15
Julien Dagher, Solène-Florence Kammerer-Jacquet, Frédéric Dugay, Marion Beaumont, Alexandra Lespagnol, Laurence Cornevin, Grégory Verhoest, Karim Bensalah, Nathalie Rioux-Leclercq, Marc-Antoine Belaud-Rotureau
Clear cell renal cell carcinoma (ccRCC) has a poor prognosis with a 50% risk of metastases. Little is known about the phenotypic and molecular profiles of metastases regarding their corresponding primary tumors. This study aimed to screen phenotypic and genotypic differences between metastases and their corresponding primary tumors. We selected four cases with available frozen material. The histological, immunohistochemical (VEGFA, CD31, SMA, Ki67, p53, PAR-3), FISH (VHL gene), next-generation sequencing (VHL and c-MET genes), multiplex ligation-dependent probe amplification, and array-(comparative genomic hybridization) CGH analyses were realized...
May 10, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28486780/quantitative-proteomics-to-study-a-small-molecule-targeting-the-loss-of-vhl
#16
Nadia Bouhamdani, Andrew Joy, David Barnett, Kevin Cormier, Daniel Léger, Ian C Chute, Simon Lamarre, Rodney Ouellette, Sandra Turcotte
Inactivation of the tumor suppressor gene, von Hippel-Lindau (VHL) is known to play an important role in the development of sporadic clear cell Renal Cell Carcinomas (ccRCCs). Even if available targeted therapies for metastatic RCCs (mRCCs) have helped to improve progression-free survival rates, they have no durable clinical response. We have previously shown the feasibility of specifically targeting the loss of VHL with the identification of a small molecule, STF-62247. Understanding its functionality is crucial for developing durable personalized therapeutic agents differing from those available targeting Hypoxia Inducible Factor (HIF-) pathways...
May 9, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28477304/routine-genetic-screening-with-a-multi-gene-panel-in-patients-with-pheochromocytomas
#17
Emilia Sbardella, Treena Cranston, Andrea M Isidori, Brian Shine, Aparna Pal, Bahram Jafar-Mohammadi, Greg Sadler, Radu Mihai, Ashley B Grossman
PURPOSE: Several new gene mutations have been reported in recent years to be associated with a risk of familial pheochromocytoma. However, it is unclear as to whether extensive genetic testing is required in all patients. METHODS: The clinical data of consecutive patients operated for pheochromocytoma over a decade in a tertiary referral center were reviewed. Genetic screening was performed using a 10-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SDHAF2, MAX, TMEM127 and FH...
May 5, 2017: Endocrine
https://www.readbyqxmd.com/read/28473526/modeling-renal-cell-carcinoma-in-mice-bap1-and-pbrm1-inactivation-drive-tumor-grade
#18
Yi-Feng Gu, Shannon Cohn, Alana Christie, Tiffani McKenzie, Nicholas C Wolff, Quyen N Do, Ananth Madhuranthakam, Ivan Pedrosa, Tao Wang, Anwesha Dey, Meinrad Busslinger, Xian-Jin Xie, Robert E Hammer, Renée M McKay, Payal Kapur, James Brugarolas
Clear cell renal cell carcinoma (ccRCC) is characterized by BAP1 and PBRM1 mutation, which are associated with tumors of different grade and prognosis. However, whether BAP1 and PBRM1 loss causes ccRCC and determines tumor grade is unclear. We conditionally targeted Bap1 and Pbrm1 (with Vhl) in the mouse using several Cre drivers. Sglt2 and Villin proximal convoluted tubule drivers failed to cause tumorigenesis, challenging the conventional notion of ccRCC origins. In contrast, targeting with Pax8, a developmental lineage-specific transcription factor, led to ccRCC of different grade...
May 4, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#19
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28462169/managing-renal-cell-carcinoma-associated-paraneoplastic-syndrome-with-nephron-sparing-surgery-in-a-patient-with-von-hippel-lindau
#20
John M DiBianco, Julie Y An, Sally Tanakchi, Zachary Stanik, Aidan McGowan, Mahir Maruf, Abhinav Sidana, Amit Lodha Jain, Akhil Muthigi, Arvin K George, Christopher Bayne, W Marston Linehan, Shawna L Boyle, Adam R Metwalli
A patient with germline von Hippel-Lindau (VHL) gene alteration and history of multiple tumors present with classical paraneoplastic syndrome (PNS) associated with renal cell carcinoma (RCC). She underwent open nephron sparing surgery with resolution of symptoms. She remained without recurrence of RCC for the initial 2 years of her follow-up. To the best of our knowledge, this case represents the first in which PNS was specifically resolved using a partial nephrectomy in a patient with VHL. This case report provides initial evidence for the potential role of nephron sparing surgery in the management of paraneoplastic symptoms associated with hereditary RCC...
July 2017: Urology Case Reports
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